Incidental Mutation 'IGL02574:Diras1'
ID |
299134 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Diras1
|
Ensembl Gene |
ENSMUSG00000043670 |
Gene Name |
DIRAS family, GTP-binding RAS-like 1 |
Synonyms |
GBTS1, Di-Ras1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.266)
|
Stock # |
IGL02574
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
80855423-80861496 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80858119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 44
(Y44C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120173
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055125]
[ENSMUST00000144640]
|
AlphaFold |
Q91Z61 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055125
AA Change: Y44C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055605 Gene: ENSMUSG00000043670 AA Change: Y44C
Domain | Start | End | E-Value | Type |
RAS
|
5 |
171 |
1.14e-82 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000144640
AA Change: Y44C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120173 Gene: ENSMUSG00000043670 AA Change: Y44C
Domain | Start | End | E-Value | Type |
Pfam:Miro
|
9 |
108 |
3.4e-17 |
PFAM |
Pfam:Ras
|
9 |
108 |
2.4e-28 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151303
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151873
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]
|
Allele List at MGI |
All alleles(5) : Targeted(3) Gene trapped(2)
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef12 |
T |
C |
9: 42,916,919 (GRCm39) |
D409G |
probably damaging |
Het |
AW551984 |
A |
C |
9: 39,500,382 (GRCm39) |
L792R |
possibly damaging |
Het |
Cep192 |
A |
G |
18: 67,974,350 (GRCm39) |
E1151G |
probably damaging |
Het |
Cfap44 |
C |
A |
16: 44,301,746 (GRCm39) |
P1828Q |
probably damaging |
Het |
Chid1 |
A |
T |
7: 141,076,603 (GRCm39) |
|
probably benign |
Het |
Col6a6 |
C |
A |
9: 105,659,390 (GRCm39) |
L518F |
probably damaging |
Het |
Ctsz |
C |
T |
2: 174,270,891 (GRCm39) |
R201K |
probably benign |
Het |
Grip1 |
T |
C |
10: 119,778,818 (GRCm39) |
V159A |
probably damaging |
Het |
Hpd |
T |
C |
5: 123,317,420 (GRCm39) |
|
probably benign |
Het |
Jag2 |
T |
C |
12: 112,879,131 (GRCm39) |
N463S |
probably benign |
Het |
Katnip |
A |
G |
7: 125,428,925 (GRCm39) |
T516A |
possibly damaging |
Het |
Kmt2a |
C |
A |
9: 44,741,810 (GRCm39) |
|
probably benign |
Het |
Myo5a |
A |
G |
9: 75,118,429 (GRCm39) |
N1619D |
probably benign |
Het |
Ncbp1 |
A |
G |
4: 46,168,449 (GRCm39) |
|
probably null |
Het |
Or12d13 |
G |
T |
17: 37,647,415 (GRCm39) |
A236E |
probably damaging |
Het |
Or2n1b |
C |
T |
17: 38,460,280 (GRCm39) |
T267I |
possibly damaging |
Het |
Pacsin2 |
G |
T |
15: 83,272,864 (GRCm39) |
A154E |
possibly damaging |
Het |
Plcd4 |
A |
T |
1: 74,603,539 (GRCm39) |
I647F |
probably damaging |
Het |
Prdm10 |
C |
T |
9: 31,268,589 (GRCm39) |
A846V |
probably damaging |
Het |
Ptgs2 |
G |
T |
1: 149,978,526 (GRCm39) |
G213* |
probably null |
Het |
Rcan3 |
C |
T |
4: 135,152,706 (GRCm39) |
S5N |
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Serpinc1 |
A |
G |
1: 160,830,029 (GRCm39) |
N465S |
probably benign |
Het |
Slc40a1 |
T |
C |
1: 45,951,534 (GRCm39) |
I208V |
possibly damaging |
Het |
Vcl |
C |
T |
14: 20,979,643 (GRCm39) |
Q19* |
probably null |
Het |
|
Other mutations in Diras1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01123:Diras1
|
APN |
10 |
80,858,249 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
IGL03178:Diras1
|
APN |
10 |
80,858,211 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0044:Diras1
|
UTSW |
10 |
80,857,972 (GRCm39) |
nonsense |
probably null |
|
R0044:Diras1
|
UTSW |
10 |
80,857,972 (GRCm39) |
nonsense |
probably null |
|
R4343:Diras1
|
UTSW |
10 |
80,858,018 (GRCm39) |
nonsense |
probably null |
|
R5289:Diras1
|
UTSW |
10 |
80,858,078 (GRCm39) |
nonsense |
probably null |
|
R5707:Diras1
|
UTSW |
10 |
80,857,915 (GRCm39) |
missense |
probably benign |
0.11 |
R7752:Diras1
|
UTSW |
10 |
80,857,895 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Diras1
|
UTSW |
10 |
80,858,116 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
Posted On |
2015-04-16 |